X chromosomal recombination study in three-generation families in Hungary

Abstract

X chromosome STR studies have a curious role in forensic and population genetics. These markers are present as a single copy in males and as double copies in females. Analysis of X-chromosomal loci can be beneficial in deficient paternity cases, when the offspring is female and the alleged father is missing, or in maternity cases [ 1 Szibor R. Krawczak M. Hering S. Edelmann J. Kuhlisch E. Krause D. Use of X-linked markers for forensic purposes. Int. J. Legal Med. 2003; 117: 67-74 Crossref PubMed Google Scholar , 2 Szibor R. X-chromosomal markers: past, present and future. Forensic Sci. Int. Genet. 2007; 1: 93-99 Abstract Full Text Full Text PDF PubMed Scopus (184) Google Scholar ]. So far, a very limited number of X recombination and linkage disequilibrium studies (LD) has been published [ 3 Hering S. Edelmann J. Augustin K. Kuhlisch E. Szibor R. X chromosomal recombination—a family study analyzing 39 STR markers in German three-generation pedigrees. Forensic Sci. Int. 2010; 124: 483-491 Google Scholar , 4 Tillmar A.O. Mostad P. Egeland T. Lindblom B. Homlund G. Montelius K. Analysis of linkage and linkage disequilibrium for eight X-STR markers. Forensic Sci. Int. 2008; 1: 37-41 Abstract Full Text Full Text PDF Scopus (51) Google Scholar , 5 Inturri S. Menegon S. Amoroso A. Torre C. Robino C. Linkage and linkage disequilibrium analysis of X-STRs in Italian families. Forensic Sci. Int. Genet. 2011; 5: 152-154 Abstract Full Text Full Text PDF PubMed Scopus (35) Google Scholar ]. Hering et al. [ [3] Hering S. Edelmann J. Augustin K. Kuhlisch E. Szibor R. X chromosomal recombination—a family study analyzing 39 STR markers in German three-generation pedigrees. Forensic Sci. Int. 2010; 124: 483-491 Google Scholar ] have analyzed three-generation family studies and Inturri et al. [ [5] Inturri S. Menegon S. Amoroso A. Torre C. Robino C. Linkage and linkage disequilibrium analysis of X-STRs in Italian families. Forensic Sci. Int. Genet. 2011; 5: 152-154 Abstract Full Text Full Text PDF PubMed Scopus (35) Google Scholar ] have studied two-generation families in the past. Inturri et al. [ [5] Inturri S. Menegon S. Amoroso A. Torre C. Robino C. Linkage and linkage disequilibrium analysis of X-STRs in Italian families. Forensic Sci. Int. Genet. 2011; 5: 152-154 Abstract Full Text Full Text PDF PubMed Scopus (35) Google Scholar ] stated that two-generation family studies are less accurate than three-generation studies, as the unavailability of the maternal grandfather does not allow a direct count of recombinant chromosomes. Furthermore, only Tillmar et al. [ [4] Tillmar A.O. Mostad P. Egeland T. Lindblom B. Homlund G. Montelius K. Analysis of linkage and linkage disequilibrium for eight X-STR markers. Forensic Sci. Int. 2008; 1: 37-41 Abstract Full Text Full Text PDF Scopus (51) Google Scholar ] performed the LD test using data of male haplotypes for 8 X-STR loci, but not for 12 X-STR loci.